Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113488022
rs113488022
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C4722085
Disease:
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE Optimizing targeted therapeutic development: analysis of a colorectal cancer patient population with the BRAF(V600E) mutation. 20635392 2011
dbSNP: rs113488022
rs113488022
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C4722085
Disease:
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE Thus, large-scale KRAS mutation screening is needed for efficient patient management and in the future metastatic colorectal cancer genotyping might also include the detection of the BRAF V600E mutation, which is a very strong negative prognostic factor in colorectal cancer. 21516079 2011
dbSNP: rs121913377
rs121913377
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C4722085
Disease:
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE Promoter methylation of Wnt5a is associated with microsatellite instability and BRAF V600E mutation in two large populations of colorectal cancer patients. 21587258 2011
dbSNP: rs121913377
rs121913377
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C4722085
Disease:
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE Optimizing targeted therapeutic development: analysis of a colorectal cancer patient population with the BRAF(V600E) mutation. 20635392 2011
dbSNP: rs121913377
rs121913377
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C4722085
Disease:
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE Thus, large-scale KRAS mutation screening is needed for efficient patient management and in the future metastatic colorectal cancer genotyping might also include the detection of the BRAF V600E mutation, which is a very strong negative prognostic factor in colorectal cancer. 21516079 2011
dbSNP: rs113488022
rs113488022
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C4722085
Disease:
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE High-frequency microsatellite instability and BRAF mutation (V600E) in unselected Serbian patients with colorectal cancer. 22210186 2012
dbSNP: rs113488022
rs113488022
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C4722085
Disease:
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE Here, we discuss the current commonly used predictive pharmacogenetic biomarkers in clinical oncology molecular testing: BRAF V600E for vemurafenib in melanoma; EML4-ALK for crizotinib and EGFR for erlotinib and gefitinib in non-small-cell lung cancer; KRAS against the use of cetuximab and panitumumab in colorectal cancer; ERBB2 (HER2/neu) for trastuzumab in breast cancer; BCR-ABL for tyrosine kinase inhibitors in chronic myeloid leukemia; and PML/RARα for all-trans-retinoic acid and arsenic trioxide treatment for acute promyelocytic leukemia. 22845480 2012
dbSNP: rs113488022
rs113488022
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C4722085
Disease:
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE The V600E mutation does not appear to be associated with microsatellite instability, unlike the case in colorectal cancer. 22246856 2012
dbSNP: rs113488022
rs113488022
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C4722085
Disease:
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE Association between methylation in mismatch repair genes, V600E BRAF mutation and microsatellite instability in colorectal cancer patients. 21681432 2012
dbSNP: rs121913377
rs121913377
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C4722085
Disease:
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE The V600E mutation does not appear to be associated with microsatellite instability, unlike the case in colorectal cancer. 22246856 2012
dbSNP: rs121913377
rs121913377
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C4722085
Disease:
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE Here, we discuss the current commonly used predictive pharmacogenetic biomarkers in clinical oncology molecular testing: BRAF V600E for vemurafenib in melanoma; EML4-ALK for crizotinib and EGFR for erlotinib and gefitinib in non-small-cell lung cancer; KRAS against the use of cetuximab and panitumumab in colorectal cancer; ERBB2 (HER2/neu) for trastuzumab in breast cancer; BCR-ABL for tyrosine kinase inhibitors in chronic myeloid leukemia; and PML/RARα for all-trans-retinoic acid and arsenic trioxide treatment for acute promyelocytic leukemia. 22845480 2012
dbSNP: rs121913377
rs121913377
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C4722085
Disease:
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE Association between methylation in mismatch repair genes, V600E BRAF mutation and microsatellite instability in colorectal cancer patients. 21681432 2012
dbSNP: rs121913377
rs121913377
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C4722085
Disease:
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE High-frequency microsatellite instability and BRAF mutation (V600E) in unselected Serbian patients with colorectal cancer. 22210186 2012
dbSNP: rs113488022
rs113488022
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C4722085
Disease:
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE The V600E mutation of BRAF was initially described in 2002 and has been found at particularly high frequency in melanoma and certain subtypes of colorectal cancer. 23406774 2013
dbSNP: rs113488022
rs113488022
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C4722085
Disease:
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE 3'-Deoxy-3'-18F-fluorothymidine PET predicts response to (V600E)BRAF-targeted therapy in preclinical models of colorectal cancer. 23341544 2013
dbSNP: rs113488022
rs113488022
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C4722085
Disease:
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE Detection of the BRAF V600E mutation in colorectal cancer by immunohistochemistry is a viable alternative to molecular methods. 23650027 2013
dbSNP: rs113488022
rs113488022
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C4722085
Disease:
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE Family history of colorectal cancer in BRAF p.V600E-mutated colorectal cancer cases. 23462926 2013
dbSNP: rs113488022
rs113488022
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C4722085
Disease:
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE Concomitant BRAF and PI3K/mTOR blockade is required for effective treatment of BRAF(V600E) colorectal cancer. 23549875 2013
dbSNP: rs121913377
rs121913377
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C4722085
Disease:
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE The V600E mutation of BRAF was initially described in 2002 and has been found at particularly high frequency in melanoma and certain subtypes of colorectal cancer. 23406774 2013
dbSNP: rs121913377
rs121913377
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C4722085
Disease:
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE 3'-Deoxy-3'-18F-fluorothymidine PET predicts response to (V600E)BRAF-targeted therapy in preclinical models of colorectal cancer. 23341544 2013
dbSNP: rs121913377
rs121913377
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C4722085
Disease:
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE Detection of the BRAF V600E mutation in colorectal cancer by immunohistochemistry is a viable alternative to molecular methods. 23650027 2013
dbSNP: rs121913377
rs121913377
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C4722085
Disease:
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE Family history of colorectal cancer in BRAF p.V600E-mutated colorectal cancer cases. 23462926 2013
dbSNP: rs121913377
rs121913377
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C4722085
Disease:
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE Concomitant BRAF and PI3K/mTOR blockade is required for effective treatment of BRAF(V600E) colorectal cancer. 23549875 2013
dbSNP: rs113488022
rs113488022
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C4722085
Disease:
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE High prevalence of deficient mismatch repair phenotype and the V600E BRAF mutation in elderly patients with colorectal cancer. 25176643 2014
dbSNP: rs113488022
rs113488022
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C4722085
Disease:
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE These results seem to indicate that Cdx2 may play a role in the serrated pathway to colorectal cancer as underlined by strong relationships with BRAF(V600E), CIMP-high and MMR-deficiency. 24166180 2014